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Mutational Profile in Romanian Patients with Hemophilia A.
Grigore, Andra; Dragomir, Mihaela; Calugaru, Onda-Tabita; Jardan, Dumitru; Jardan, Cerasela; Brînza, Melen; Balanescu, Paul; Coriu, Daniel.
Afiliación
  • Grigore A; Hematology (Clinic and Laboratory) Discipline-Fundeni Clinical Institute, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
  • Dragomir M; Department of Hematology and Bone Marrow Transplant, Fundeni Clinical Institute, 022328 Bucharest, Romania.
  • Calugaru OT; Department of Hematology and Bone Marrow Transplant, Fundeni Clinical Institute, 022328 Bucharest, Romania.
  • Jardan D; Department of Hematology and Bone Marrow Transplant, Fundeni Clinical Institute, 022328 Bucharest, Romania.
  • Jardan C; Molecular Biology Laboratory, Medlife, 010093 Bucharest, Romania.
  • Brînza M; Department of Hematology and Bone Marrow Transplant, Fundeni Clinical Institute, 022328 Bucharest, Romania.
  • Balanescu P; Pediatrics Discipline-Fundeni Clinical Institute, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
  • Coriu D; Department of Hematology and Bone Marrow Transplant, Fundeni Clinical Institute, 022328 Bucharest, Romania.
Int J Mol Sci ; 25(15)2024 Jul 31.
Article en En | MEDLINE | ID: mdl-39125936
ABSTRACT
Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the F8 gene, resulting in deficient or dysfunctional factor VIII (FVIII). This study aimed to characterize the mutational profile of HA in Romanian patients using next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA). A total of 107 patients were analyzed, revealing pathogenic or likely pathogenic variants in 96.3% of cases. The identified mutations included missense (30.5%), nonsense (9.1%), small deletions (6.4%), small insertions (2.1%), splice-site variants (4.3%), large deletions (1.6%), and large duplications (1.1%). Large intron inversion was previously found in 37.5% of the patients. Novel variants accounted for 21.5% of identified mutations, expanding the spectrum of F8 variants in this population. This study underscores the genetic heterogeneity of HA and provides insights into genotype-phenotype correlations, aiding in clinical management and prenatal diagnosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor VIII / Secuenciación de Nucleótidos de Alto Rendimiento / Hemofilia A Límite: Adult / Child / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Rumanía Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor VIII / Secuenciación de Nucleótidos de Alto Rendimiento / Hemofilia A Límite: Adult / Child / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Int J Mol Sci Año: 2024 Tipo del documento: Article País de afiliación: Rumanía Pais de publicación: Suiza